UI - 21411272
AU - Franz DN; Brody A; Meyer C; Leonard J; Chuck G; Dabora S; Sethuraman G;
Colby TV; Kwiatkowski DJ; McCormack FX
Mutational and radiographic analysis of pulmonary disease consistent
with lymphangioleiomyomatosis and micronodular pneumocyte hyperplasia in
women with tuberous sclerosis.
SO - Am J Respir Crit Care Med 2001 Aug 15;164(4):661-8
AD - Department of Pediatrics, University of Cincinnati College of Medicine,
Cincinnati, Ohio, USA. email@example.com
Lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte
hyperplasia (MMPH) produce cystic and nodular disease, respectively, in
the lungs of patients with tuberous sclerosis. The objective of this
study was to prospectively characterize the prevalence, clinical
presentation, and genetic basis of lung disease in TSC. We performed
genotyping and computerized tomographic (CT) scanning of the chest on 23
asymptomatic women with tuberous sclerosis complex (TSC). Cystic
pulmonary parenchymal changes consistent with LAM were found in nine
patients (39%). These patients tended to be older than cyst-negative
patients (31.9 +/- 7.6 yr versus 24.8 +/- 11.6 yr, p = 0.09). There was
no correlation between presence of cysts and tobacco use, age at
menarche, history of pregnancy, or estrogen-containing medications.
Three of the cyst-positive patients had a prior history of pneumothorax.
Pulmonary function studies revealed evidence of gas trapping but normal
spirometric indices in the cyst-positive group. All nine cyst-positive
patients had angiomyolipomas (AML), which were larger (p < 0.05) and
more frequently required intervention (p = 0.08) than cyst-negative
patients (8 of 14 with AMLs, p < 0.05). Ten patients (43%) had pulmonary
parenchymal nodules. Pulmonary nodules were more common in women with
cysts (78% versus 21%, p < 0.05), and 52% of all patients had either
cystic or nodular changes. TSC2 mutations were identified in all
cyst-positive patients who were tested (n = 8), whereas both TSC1 and
TSC2 mutations were found in patients with nodular disease. Correlation
of the mutational and radiographic data revealed one pair of sisters who
were discordant for cystic disease, two mother- daughter pairs who were
discordant for nodular disease, and no clear association between cyst
development and a specific mutational type. This prospective analysis
demonstrates that cystic and nodular pulmonary changes consistent with
LAM and MMPH are common in women with TSC.
UI - 21295699
AU - Khare L; Strizheva GD; Bailey JN; Au KS; Northrup H; Smith M; Smalley
SL; Henske EP
A novel missense mutation in the GTPase activating protein
homology region of TSC2 in two large families with tuberous
SO - J Med Genet 2001 May;38(5):347-9
UI - 84216651
AU - Simmons K
Early diagnosis, genetic marker sought for tuberous sclerosis.
SO - JAMA 1984 Jun 15;251(23):3061-3
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